Canonical Allele Identifier: CA2039015343
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763733C= , CM000674.2:g.57763733C= GRCh38
NC_000012.11:g.58157516C= , CM000674.1:g.58157516C= GRCh37
NC_000012.10:g.56443783C= NCBI36
NG_007076.1:g.8461G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1372G= ENSP00000518840.1:p.Ala458=
ENST00000713545.1:c.*296G= ENSP00000518841.1:n.*296G=
ENST00000228606.9:c.1291G= MANE Select ENSP00000228606.4:p.Ala431=
ENST00000228606.8:c.1291G= ENSP00000228606.4:p.Ala431=
ENST00000547344.5:n.1430G=
NM_000785.3:c.1291G= NP_000776.1:p.Ala431=
NM_000785.4:c.1291G= MANE Select NP_000776.1:p.Ala431=